Q9HBZ2 (ARNT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Aryl hydrocarbon receptor nuclear translocator 2
Short name=ARNT protein 2

Alternative name(s):
Class E basic helix-loop-helix protein 1
Short name=bHLHe1

Gene names

Name:	ARNT2
Synonyms:	BHLHE1, KIAA0307

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	717 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Specifically recognizes the xenobiotic response element (XRE).
Subunit structure	Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer with the aryl hydrocarbon receptor (AHR) or the SIM1 protein. Interacts with TACC3 By similarity.
Subcellular location	Nucleus Potential.
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain. Contains 1 PAC (PAS-associated C-terminal) domain. Contains 2 PAS (PER-ARNT-SIM) domains.
Sequence caution	The sequence AAH36099.1 differs from that shown. Reason: Probable cloning artifact. The sequence BAA20766.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	central nervous system development Inferred from sequence or structural similarity. Source: UniProtKB in utero embryonic development Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of apoptotic process Inferred from electronic annotation. Source: Compara positive regulation of cell proliferation Inferred from electronic annotation. Source: Compara positive regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara positive regulation of transcription, DNA-dependent Inferred from sequence or structural similarity. Source: UniProtKB response to estradiol stimulus Inferred from electronic annotation. Source: Compara response to hypoxia Inferred from direct assay PubMed 12239177. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from electronic annotation. Source: InterPro nucleus Inferred from direct assay PubMed 12239177. Source: UniProtKB transcription factor complex Inferred from electronic annotation. Source: Compara
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW aryl hydrocarbon receptor binding Inferred from sequence or structural similarity. Source: UniProtKB protein heterodimerization activity Inferred from sequence or structural similarity. Source: UniProtKB sequence-specific DNA binding transcription factor activity Inferred from sequence or structural similarity. Source: UniProtKB signal transducer activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9HBZ2-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9HBZ2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 717	717	Aryl hydrocarbon receptor nuclear translocator 2		PRO_0000127122
Regions
	Domain	63 – 116	54	bHLH
	Domain	134 – 209	76	PAS 1
	Domain	323 – 393	71	PAS 2
	Domain	398 – 441	44	PAC
	Compositional bias	73 – 76	4	Poly-Arg
	Compositional bias	440 – 445	6	Poly-Gln
	Compositional bias	552 – 555	4	Poly-Ser
Natural variations
	Alternative sequence	1 – 11	11	Missing in isoform 2.		VSP_022687
	Natural variant	679	1	G → S. Ref.2 Corresponds to variant rs4072568 [ dbSNP | Ensembl ].		VAR_049538
Experimental info
	Sequence conflict	28	1	A → V in BX647212. Ref.4
	Sequence conflict	75	1	R → K in BAA20766. Ref.2
	Sequence conflict	555	1	S → P in BX647212. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 6, 2007. Version 2. Checksum: AC7524E97F617252	FASTA	717	78,691
	10 20 30 40 50 60 MATPAAVNPP EMASDIPGSV TLPVAPMAAT GQVRMAGAMP ARGGKRRSGM DFDDEDGEGP 70 80 90 100 110 120 SKFSRENHSE IERRRRNKMT QYITELSDMV PTCSALARKP DKLTILRMAV SHMKSMRGTG 130 140 150 160 170 180 NKSTDGAYKP SFLTEQELKH LILEAADGFL FVVAAETGRV IYVSDSVTPV LNQPQSEWFG 190 200 210 220 230 240 STLYEQVHPD DVEKLREQLC TSENSMTGRI LDLKTGTVKK EGQQSSMRMC MGSRRSFICR 250 260 270 280 290 300 MRCGNAPLDH LPLNRITTMR KRFRNGLGPV KEGEAQYAVV HCTGYIKAWP PAGMTIPEED 310 320 330 340 350 360 ADVGQGSKYC LVAIGRLQVT SSPVCMDMNG MSVPTEFLSR HNSDGIITFV DPRCISVIGY 370 380 390 400 410 420 QPQDLLGKDI LEFCHPEDQS HLRESFQQVV KLKGQVLSVM YRFRTKNREW MLIRTSSFTF 430 440 450 460 470 480 QNPYSDEIEY IICTNTNVKQ LQQQQAELEV HQRDGLSSYD LSQVPVPNLP AGVHEAGKSV 490 500 510 520 530 540 EKADAIFSQE RDPRFAEMFA GISASEKKMM SSASAAGTQQ IYSQGSPFPS GHSGKAFSSS 550 560 570 580 590 600 VVHVPGVNDI QSSSSTGQNM SQISRQLNQS QVAWTGSRPP FPGQQIPSQS SKTQSSPFGI 610 620 630 640 650 660 GTSHTYPADP SSYSPLSSPA TSSPSGNAYS SLANRTPGFA ESGQSSGQFQ GRPSEVWSQW 670 680 690 700 710 QSQHHGQQSG EQHSHQQPGQ TEVFQDMLPM PGDPTQGTGN YNIEDFADLG MFPPFSE
	Isoform 2 [UniParc]. Checksum: 2187A3C603EC7D39	FASTA	706	77,612
	10 20 30 40 50 60 MASDIPGSVT LPVAPMAATG QVRMAGAMPA RGGKRRSGMD FDDEDGEGPS KFSRENHSEI 70 80 90 100 110 120 ERRRRNKMTQ YITELSDMVP TCSALARKPD KLTILRMAVS HMKSMRGTGN KSTDGAYKPS 130 140 150 160 170 180 FLTEQELKHL ILEAADGFLF VVAAETGRVI YVSDSVTPVL NQPQSEWFGS TLYEQVHPDD 190 200 210 220 230 240 VEKLREQLCT SENSMTGRIL DLKTGTVKKE GQQSSMRMCM GSRRSFICRM RCGNAPLDHL 250 260 270 280 290 300 PLNRITTMRK RFRNGLGPVK EGEAQYAVVH CTGYIKAWPP AGMTIPEEDA DVGQGSKYCL 310 320 330 340 350 360 VAIGRLQVTS SPVCMDMNGM SVPTEFLSRH NSDGIITFVD PRCISVIGYQ PQDLLGKDIL 370 380 390 400 410 420 EFCHPEDQSH LRESFQQVVK LKGQVLSVMY RFRTKNREWM LIRTSSFTFQ NPYSDEIEYI 430 440 450 460 470 480 ICTNTNVKQL QQQQAELEVH QRDGLSSYDL SQVPVPNLPA GVHEAGKSVE KADAIFSQER 490 500 510 520 530 540 DPRFAEMFAG ISASEKKMMS SASAAGTQQI YSQGSPFPSG HSGKAFSSSV VHVPGVNDIQ 550 560 570 580 590 600 SSSSTGQNMS QISRQLNQSQ VAWTGSRPPF PGQQIPSQSS KTQSSPFGIG TSHTYPADPS 610 620 630 640 650 660 SYSPLSSPAT SSPSGNAYSS LANRTPGFAE SGQSSGQFQG RPSEVWSQWQ SQHHGQQSGE 670 680 690 700 QHSHQQPGQT EVFQDMLPMP GDPTQGTGNY NIEDFADLGM FPPFSE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2): structure, gene mapping, polymorphisms, and candidate evaluation for human orofacial clefts." Barrow L.L., Wines M.E., Romitti P.A., Holdener B.C., Murray J.C. Teratology 66:85-90(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT SER-679. Tissue: Brain.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Hippocampus.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Amygdala.
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-694 (ISOFORM 1). Tissue: Brain.
[7]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF185610 , AF185593, AF185594, AF185595, AF185596, AF185597, AF185598, AF185599, AF185600, AF185601, AF185602, AF185603, AF185604, AF185605, AF185606, AF185607, AF185608, AF185609 Genomic DNA. Translation: AAG15310.1. AB002305 mRNA. Translation: BAA20766.2. Different initiation. AK295763 mRNA. Translation: BAG58589.1. BX647212 mRNA. No translation available. CH471136 Genomic DNA. Translation: EAW99114.1. BC036099 mRNA. Translation: AAH36099.1. Sequence problems.
IPI	IPI00478506. IPI00796054.
RefSeq	NP_055677.3. NM_014862.3.
UniGene	Hs.459070.
3D structure databases
ProteinModelPortal	Q9HBZ2.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9HBZ2. 4 interactions.
MINT	MINT-2867815.
STRING	9606.ENSP00000307479.
PTM databases
PhosphoSite	Q9HBZ2.
Polymorphism databases
DMDM	125987793.
Proteomic databases
PaxDb	Q9HBZ2.
PRIDE	Q9HBZ2.
Protocols and materials databases
DNASU	9915.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000303329; ENSP00000307479; ENSG00000172379. ENST00000527771; ENSP00000453792; ENSG00000172379. ENST00000533983; ENSP00000453651; ENSG00000172379.
GeneID	9915.
KEGG	hsa:9915.
UCSC	uc002bfr.3. human.
Organism-specific databases
CTD	9915.
GeneCards	GC15P080696.
H-InvDB	HIX0012493.
HGNC	HGNC:16876. ARNT2.
HPA	CAB005081. HPA001056.
MIM	606036. gene.
neXtProt	NX_Q9HBZ2.
PharmGKB	PA24995.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG293303.
HOGENOM	HOG000234380.
HOVERGEN	HBG000164.
InParanoid	Q9HBZ2.
KO	K15589.
OMA	VCMDMSG.
OrthoDB	EOG4K3KVQ.
Gene expression databases
ArrayExpress	Q9HBZ2.
Bgee	Q9HBZ2.
CleanEx	HS_ARNT2.
Genevestigator	Q9HBZ2.
GermOnline	ENSG00000172379. Homo sapiens.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. IPR001067. Nuc_translocat. IPR001610. PAC. IPR000014. PAS. IPR013767. PAS_fold. IPR013655. PAS_fold_3. [Graphical view]
Pfam	PF00010. HLH. 1 hit. PF00989. PAS. 1 hit. PF08447. PAS_3. 1 hit. [Graphical view]
PRINTS	PR00785. NCTRNSLOCATR.
SMART	SM00353. HLH. 1 hit. SM00086. PAC. 1 hit. SM00091. PAS. 2 hits. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
TIGRFAMs	TIGR00229. sensory_box. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. PS50113. PAC. False negative. PS50112. PAS. 2 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ARNT2. human.
GenomeRNAi	9915.
NextBio	37404.
SOURCE	Search...

Entry information

Entry name

ARNT2_HUMAN

Accession

Primary (citable) accession number: Q9HBZ2
Secondary accession number(s): B4DIS7, O15024, Q8IYC2

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 18, 2001
Last sequence update:	February 6, 2007
Last modified:	May 1, 2013
This is version 121 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.